ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome due to tenascin-X deficiency by Baylor Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00013
NM_001365276.2(TNXB):c.2584C>T (p.Arg862Cys) rs570806090 0.00008
NM_001365276.2(TNXB):c.788G>A (p.Arg263His) rs371229076 0.00004
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) rs372387718
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) rs1778570345
NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln) rs61729739

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